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Volumn 125, Issue 2, 2007, Pages 196-203

Molecular diagnosis and genetic counseling in ophthalmology

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H; DNA; MESSENGER RNA;

EID: 33846969922     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.125.2.196     Document Type: Review
Times cited : (15)

References (57)
  • 2
    • 32944481700 scopus 로고    scopus 로고
    • Perspectives on humangenetic variation from the HapMap Project
    • McVean G, Spencer CC, Chaix R. Perspectives on humangenetic variation from the HapMap Project. PLoS Genet. 2005;1:e54. http://genetics. plosjournals.org/archive/1553-7404/1/4/pdf/10.1371_journal.pgen.0010054-S.pdf.
    • (2005) PLoS Genet , vol.1
    • McVean, G.1    Spencer, C.C.2    Chaix, R.3
  • 3
    • 0028598442 scopus 로고
    • Molecular genetics of inherited eye disorders
    • MacDonald IM, Sasi R. Molecular genetics of inherited eye disorders. Clin Invest Med. 1994;17:474-498.
    • (1994) Clin Invest Med , vol.17 , pp. 474-498
    • MacDonald, I.M.1    Sasi, R.2
  • 4
    • 20244380171 scopus 로고    scopus 로고
    • Complement factor H polymorphism in age-related macular degeneration
    • Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308:385-389.
    • (2005) Science , vol.308 , pp. 385-389
    • Klein, R.J.1    Zeiss, C.2    Chew, E.Y.3
  • 6
    • 20244388812 scopus 로고    scopus 로고
    • Complement factor H variant increases the risk of age-related macular degeneration
    • Haines JL, Hauser MA, Schmidt S, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005;308:419-421.
    • (2005) Science , vol.308 , pp. 419-421
    • Haines, J.L.1    Hauser, M.A.2    Schmidt, S.3
  • 7
    • 0036844718 scopus 로고    scopus 로고
    • Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia
    • Crolla JA, van Heyningen V. Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. Am J Hum Genet. 2002;71:1138-1149.
    • (2002) Am J Hum Genet , vol.71 , pp. 1138-1149
    • Crolla, J.A.1    van Heyningen, V.2
  • 8
    • 25844490588 scopus 로고    scopus 로고
    • The new cytogenetics: Blurring the boundaries with molecular biology
    • Speicher MR, Carter NP. The new cytogenetics: blurring the boundaries with molecular biology. Nat Rev Genet. 2005;6:782-792.
    • (2005) Nat Rev Genet , vol.6 , pp. 782-792
    • Speicher, M.R.1    Carter, N.P.2
  • 9
    • 19444377455 scopus 로고    scopus 로고
    • Detection of chromosomal imbalances in retinoblastoma by matrix-based comparative genomic hybridization
    • Zielinski B, Gratias S, Toedt G, et al. Detection of chromosomal imbalances in retinoblastoma by matrix-based comparative genomic hybridization. Genes Chromosomes Cancer. 2005;43:294-301.
    • (2005) Genes Chromosomes Cancer , vol.43 , pp. 294-301
    • Zielinski, B.1    Gratias, S.2    Toedt, G.3
  • 10
    • 27944511525 scopus 로고    scopus 로고
    • Microarray comparative genomic hybridisation analysis of intraocular uveal melanomas identifies distinctive imbalances associated with loss of chromosome 3
    • Hughes S, Damato BE, Giddings I, Hiscott PS, Humphreys J, Houlston RS. Microarray comparative genomic hybridisation analysis of intraocular uveal melanomas identifies distinctive imbalances associated with loss of chromosome 3. Br J Cancer. 2005;93:1191-1196.
    • (2005) Br J Cancer , vol.93 , pp. 1191-1196
    • Hughes, S.1    Damato, B.E.2    Giddings, I.3    Hiscott, P.S.4    Humphreys, J.5    Houlston, R.S.6
  • 12
    • 1142274403 scopus 로고    scopus 로고
    • Finding and interpreting genetic variations that are important to ophthalmologists
    • Stone EM. Finding and interpreting genetic variations that are important to ophthalmologists. Trans Am Ophthalmol Soc. 2003;101:437-484.
    • (2003) Trans Am Ophthalmol Soc , vol.101 , pp. 437-484
    • Stone, E.M.1
  • 13
    • 27244455446 scopus 로고    scopus 로고
    • Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform
    • Mandal MN, Heckenlively JR, Burch T, et al. Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform. Invest Ophthalmol Vis Sci. 2005;46:3355-3362.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 3355-3362
    • Mandal, M.N.1    Heckenlively, J.R.2    Burch, T.3
  • 14
    • 33645405363 scopus 로고    scopus 로고
    • Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis
    • Yzer S, Leroy BP, De Baere E, et al. Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2006;47:1167-1176.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 1167-1176
    • Yzer, S.1    Leroy, B.P.2    De Baere, E.3
  • 15
    • 33745025710 scopus 로고    scopus 로고
    • A new definition of genetic counseling: National society of genetic counselors' task force report
    • Resta R, Biesecker BB, Bennett RL, et al. A new definition of genetic counseling: national society of genetic counselors' task force report. J Genet Couns. 2006;15:77-83.
    • (2006) J Genet Couns , vol.15 , pp. 77-83
    • Resta, R.1    Biesecker, B.B.2    Bennett, R.L.3
  • 16
    • 0002869443 scopus 로고    scopus 로고
    • The practice of genetic counseling
    • Baker DL, Schuette JL, Uhlmann WR, eds, New York, NY: Wiley-Liss;
    • Walker AP. The practice of genetic counseling. In: Baker DL, Schuette JL, Uhlmann WR, eds. A Guide to Genetic Counseling. New York, NY: Wiley-Liss; 1998:1-26.
    • (1998) A Guide to Genetic Counseling , pp. 1-26
    • Walker, A.P.1
  • 17
    • 33847003651 scopus 로고    scopus 로고
    • Enhancing the Oversight of Genetic Tests: Recommendations of the SACGT
    • SACGT
    • SACGT. Enhancing the Oversight of Genetic Tests: Recommendations of the SACGT. Bethesda, Md: SACGT; 2000:1-32.
    • (2000) Bethesda, Md: SACGT , pp. 1-32
  • 18
    • 0025916226 scopus 로고
    • Non-paternity and prenatal genetic screening
    • Macintyre S, Sooman A. Non-paternity and prenatal genetic screening. Lancet. 1991;338:869-871.
    • (1991) Lancet , vol.338 , pp. 869-871
    • Macintyre, S.1    Sooman, A.2
  • 19
    • 0004349748 scopus 로고
    • Statistics on adoption in the United States
    • Stolley KS. Statistics on adoption in the United States. Future Child. 1993;3:26-42.
    • (1993) Future Child , vol.3 , pp. 26-42
    • Stolley, K.S.1
  • 21
    • 33846959765 scopus 로고    scopus 로고
    • White C. Survey on Public Attitudes Toward Genetic Technologies and Genetic Discrimination, Cogent Research: Secretary's Advisory Committee on Genetics, Health, and Society Ninth Meeting. Bethesda, Md: SACGHS; 2006.
    • White C. Survey on Public Attitudes Toward Genetic Technologies and Genetic Discrimination, Cogent Research: Secretary's Advisory Committee on Genetics, Health, and Society Ninth Meeting. Bethesda, Md: SACGHS; 2006.
  • 22
    • 33847007636 scopus 로고    scopus 로고
    • Lanham RB. An Analysis of the Adequacy of Current Law in Protecting Against Genetic Discrimination in Health Insurance and Employment: A Report Commissioned by the Secretary's Advisory Committee on Genetics, Health, and Society. Bethesda, Md: SACGHS; 2005.
    • Lanham RB. An Analysis of the Adequacy of Current Law in Protecting Against Genetic Discrimination in Health Insurance and Employment: A Report Commissioned by the Secretary's Advisory Committee on Genetics, Health, and Society. Bethesda, Md: SACGHS; 2005.
  • 23
    • 0039217400 scopus 로고    scopus 로고
    • Americans with Disabilities Act of 1990, Pub L No. 101-336, 104 Stat 327 (1990).
    • Americans with Disabilities Act of 1990, Pub L No. 101-336, 104 Stat 327 (1990).
  • 24
    • 33847003320 scopus 로고    scopus 로고
    • Social Security Act, Pub L No. 74-271, 49 Stat 620 (1935).
    • Social Security Act, Pub L No. 74-271, 49 Stat 620 (1935).
  • 25
    • 33644850653 scopus 로고    scopus 로고
    • Health Insurance Portability and Accountability Act of 1996, Pub L No. 104-191, 110 Stat 1936 (1996).
    • Health Insurance Portability and Accountability Act of 1996, Pub L No. 104-191, 110 Stat 1936 (1996).
  • 26
    • 0034628206 scopus 로고    scopus 로고
    • Executive Order 13145 to prohibit discrimination in federal employment based on genetic information
    • Executive Order 13145 to prohibit discrimination in federal employment based on genetic information. Fed Regist. 2000;65:6877-6880.
    • (2000) Fed Regist , vol.65 , pp. 6877-6880
  • 28
    • 33847007274 scopus 로고    scopus 로고
    • Genetic Information Non-Discrimination Act of 2005, S 306, 109th Congress, 1st Sess (2005).
    • Genetic Information Non-Discrimination Act of 2005, S 306, 109th Congress, 1st Sess (2005).
  • 29
  • 30
    • 16244422307 scopus 로고    scopus 로고
    • Toward a biopsychosocial model for 21st-century genetics
    • Rolland JS, Williams JK. Toward a biopsychosocial model for 21st-century genetics. Fam Process. 2005;44:3-24.
    • (2005) Fam Process , vol.44 , pp. 3-24
    • Rolland, J.S.1    Williams, J.K.2
  • 31
    • 0032894724 scopus 로고    scopus 로고
    • Perceived personal control (PPC): A new concept in measuring outcome of genetic counseling
    • Berkenstadt M, Shiloh S, Barkai G, Katznelson MB, Goldman B. Perceived personal control (PPC): a new concept in measuring outcome of genetic counseling. Am J Med Genet. 1999;82:53-59.
    • (1999) Am J Med Genet , vol.82 , pp. 53-59
    • Berkenstadt, M.1    Shiloh, S.2    Barkai, G.3    Katznelson, M.B.4    Goldman, B.5
  • 32
    • 0021358422 scopus 로고
    • Psychological aspects of genetic counseling, III: Management of guilt and shame
    • Kessler S, Kessler H, Ward P. Psychological aspects of genetic counseling, III: management of guilt and shame. Am J Med Genet. 1984;17:673-697.
    • (1984) Am J Med Genet , vol.17 , pp. 673-697
    • Kessler, S.1    Kessler, H.2    Ward, P.3
  • 34
    • 0003147444 scopus 로고
    • Bearing bad news: Dealing with the mimics of denial
    • Lubinsky MS. Bearing bad news: dealing with the mimics of denial. J Genet Couns. 1994;3:5-12.
    • (1994) J Genet Couns , vol.3 , pp. 5-12
    • Lubinsky, M.S.1
  • 35
    • 0028329011 scopus 로고
    • Low vision: How to assess and treat its emotional impact
    • Leinhaas MA, Hedstrom NJ. Low vision: how to assess and treat its emotional impact. Geriatrics. 1994;49:53-56.
    • (1994) Geriatrics , vol.49 , pp. 53-56
    • Leinhaas, M.A.1    Hedstrom, N.J.2
  • 36
    • 0035001958 scopus 로고    scopus 로고
    • Quality of life of low-vision patients and outcomes of low-vision rehabilitation
    • Stelmack J. Quality of life of low-vision patients and outcomes of low-vision rehabilitation. Optom Vis Sci. 2001;78:335-342.
    • (2001) Optom Vis Sci , vol.78 , pp. 335-342
    • Stelmack, J.1
  • 37
    • 0033777223 scopus 로고    scopus 로고
    • Psychological consequences of predictive genetic testing: A systematic review
    • Broadstock M, Michie S, Marteau T. Psychological consequences of predictive genetic testing: a systematic review. Eur J Hum Genet. 2000;8:731-738.
    • (2000) Eur J Hum Genet , vol.8 , pp. 731-738
    • Broadstock, M.1    Michie, S.2    Marteau, T.3
  • 38
    • 16944364511 scopus 로고    scopus 로고
    • Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
    • David G, Abbas N, Stevanin G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet. 1997;17:65-70.
    • (1997) Nat Genet , vol.17 , pp. 65-70
    • David, G.1    Abbas, N.2    Stevanin, G.3
  • 39
    • 16544379814 scopus 로고    scopus 로고
    • Evaluation of psychosocial effects of pre-symptomatic testing for breast/ovarian and colon cancer pre-disposing genes: A 12-month follow-up
    • Arver B, Haegermark A, Platten U, Lindblom A, Brandberg Y. Evaluation of psychosocial effects of pre-symptomatic testing for breast/ovarian and colon cancer pre-disposing genes: a 12-month follow-up. Fam Cancer. 2004;3:109-116.
    • (2004) Fam Cancer , vol.3 , pp. 109-116
    • Arver, B.1    Haegermark, A.2    Platten, U.3    Lindblom, A.4    Brandberg, Y.5
  • 40
    • 23944459041 scopus 로고    scopus 로고
    • Emotional reactions to predictive testing in Alzheimer's disease and other inherited dementias
    • Molinuevo JL, Pintor L, Peri JM, et al. Emotional reactions to predictive testing in Alzheimer's disease and other inherited dementias. Am J Alzheimers Dis Other Demen. 2005;20:233-238.
    • (2005) Am J Alzheimers Dis Other Demen , vol.20 , pp. 233-238
    • Molinuevo, J.L.1    Pintor, L.2    Peri, J.M.3
  • 41
    • 1842582474 scopus 로고    scopus 로고
    • Psychosocial impact of predictive testing for myotonic dystrophy type 1
    • Prevost C, Veillette S, Perron M, et al. Psychosocial impact of predictive testing for myotonic dystrophy type 1. Am J Med Genet A. 2004;126:68-77.
    • (2004) Am J Med Genet A , vol.126 , pp. 68-77
    • Prevost, C.1    Veillette, S.2    Perron, M.3
  • 42
    • 0037262015 scopus 로고    scopus 로고
    • Psychological distress in the 5-year period after predictive testing for Huntington's disease
    • Decruyenaere M, Evers-Kiebooms G, Cloostermans T, et al. Psychological distress in the 5-year period after predictive testing for Huntington's disease. Eur J Hum Genet. 2003;11:30-38.
    • (2003) Eur J Hum Genet , vol.11 , pp. 30-38
    • Decruyenaere, M.1    Evers-Kiebooms, G.2    Cloostermans, T.3
  • 43
    • 3042743476 scopus 로고    scopus 로고
    • Psychologic distress after disclosure of genetic test results regarding hereditary nonpolyposis colorectal carcinoma
    • Murakami Y, Okamura H, Sugano K, et al. Psychologic distress after disclosure of genetic test results regarding hereditary nonpolyposis colorectal carcinoma. Cancer. 2004;101:395-403.
    • (2004) Cancer , vol.101 , pp. 395-403
    • Murakami, Y.1    Okamura, H.2    Sugano, K.3
  • 44
    • 21544448869 scopus 로고    scopus 로고
    • Emotional responses to APO E genotype disclosure for Alzheimer disease
    • Romero LJ, Garry PJ, Schuyler M, et al. Emotional responses to APO E genotype disclosure for Alzheimer disease. J Genet Couns. 2005;14:141-150.
    • (2005) J Genet Couns , vol.14 , pp. 141-150
    • Romero, L.J.1    Garry, P.J.2    Schuyler, M.3
  • 45
    • 0018598917 scopus 로고
    • Genetic counseling: Provision and reception of information
    • Lippman-Hand A, Fraser FC. Genetic counseling: provision and reception of information. Am J Med Genet. 1979;3:113-127.
    • (1979) Am J Med Genet , vol.3 , pp. 113-127
    • Lippman-Hand, A.1    Fraser, F.C.2
  • 46
    • 3543146182 scopus 로고    scopus 로고
    • Family matters: A conceptual framework for genetic testing in children
    • McConkie-Rosell A, Spiridigliozzi GA. "Family matters": a conceptual framework for genetic testing in children. J Genet Couns. 2004;13:9-29.
    • (2004) J Genet Couns , vol.13 , pp. 9-29
    • McConkie-Rosell, A.1    Spiridigliozzi, G.A.2
  • 47
    • 0028872836 scopus 로고
    • Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors
    • Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors. Am J Hum Genet. 1995;57:1233-1241.
    • (1995) Am J Hum Genet , vol.57 , pp. 1233-1241
  • 50
    • 33847000847 scopus 로고    scopus 로고
    • Accessed December 1, 2006
    • GeneTests Web site. www.genetests.org. Accessed December 1, 2006.
    • GeneTests Web site
  • 51
    • 0031962092 scopus 로고    scopus 로고
    • Genetic counseling and testing for breast-ovarian cancer susceptibility: What do women want?
    • Audrain J, Rimer B, Cella D, et al. Genetic counseling and testing for breast-ovarian cancer susceptibility: what do women want? J Clin Oncol. 1998;16:133-138.
    • (1998) J Clin Oncol , vol.16 , pp. 133-138
    • Audrain, J.1    Rimer, B.2    Cella, D.3
  • 52
    • 0034006310 scopus 로고    scopus 로고
    • The role of expectations in effective genetic counseling
    • Jay LR, Afifi WA, Samter W. The role of expectations in effective genetic counseling. J Genet Couns. 2000;9:95-116.
    • (2000) J Genet Couns , vol.9 , pp. 95-116
    • Jay, L.R.1    Afifi, W.A.2    Samter, W.3
  • 53
    • 84879771509 scopus 로고    scopus 로고
    • Accessed December 1, 2006
    • Genetic Alliance Web site. http://www.geneticalliance.org. Accessed December 1, 2006.
    • Genetic Alliance Web site
  • 54
    • 33846996298 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man Web site, Accessed December 1, 2006
    • Online Mendelian Inheritance in Man Web site. http://www.ncbi.nlm.nih. gov/entrez/query.fcgi?db=omim. Accessed December 1, 2006.
  • 57
    • 33846948205 scopus 로고    scopus 로고
    • National Eye Disease Genotyping Network Web site, Accessed December 1, 2006
    • National Eye Disease Genotyping Network Web site. http://www.nei.nih.gov/ resources/eyegene.asp. Accessed December 1, 2006.


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